Regulation of mother-to-offspring transmission of mtDNA heteroplasmy
File(s)Regulation-of-Mother-to-Offspring-Transmission.pdf (2.27 MB)
Published version
Author(s)
Latorre-Pellicer, Ana
Lechuga-Vieco, Ana Victoria
Johnston, Iain G
Hämäläinen, Riikka H
Pellico, Juan
Type
Journal Article
Abstract
mtDNA is present in multiple copies in each cell derived from the expansions of those in the oocyte. Heteroplasmy, more than one mtDNA variant, may be generated by mutagenesis, paternal mtDNA leakage, and novel medical technologies aiming to prevent inheritance of mtDNA-linked diseases. Heteroplasmy phenotypic impact remains poorly understood. Mouse studies led to contradictory models of random drift or haplotype selection for mother-to-offspring transmission of mtDNA heteroplasmy. Here, we show that mtDNA heteroplasmy affects embryo metabolism, cell fitness, and induced pluripotent stem cell (iPSC) generation. Thus, genetic and pharmacological interventions affecting oxidative phosphorylation (OXPHOS) modify competition among mtDNA haplotypes during oocyte development and/or at early embryonic stages. We show that heteroplasmy behavior can fall on a spectrum from random drift to strong selection, depending on mito-nuclear interactions and metabolic factors. Understanding heteroplasmy dynamics and its mechanisms provide novel knowledge of a fundamental biological process and enhance our ability to mitigate risks in clinical applications affecting mtDNA transmission.
Date Issued
2019-12-03
Date Acceptance
2019-09-10
Citation
Cell Metabolism, 2019, 30 (6), pp.1120-1130.e5
ISSN
1550-4131
Publisher
Elsevier BV
Start Page
1120
End Page
1130.e5
Journal / Book Title
Cell Metabolism
Volume
30
Issue
6
Copyright Statement
Crown Copyright © 2019 Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Sponsor
Engineering & Physical Science Research Council (EPSRC)
Grant Number
EP/N014529/1
Subjects
embryo
germline selection
heteroplasmy
mitochondria
mitochondrial replacement
mtDNA competition
mtDNA inheritance
Endocrinology & Metabolism
0601 Biochemistry and Cell Biology
1101 Medical Biochemistry and Metabolomics
Publication Status
Published
Date Publish Online
2019-10-03